Disease
[KCNE1_HUMAN] Mutations in KCNE1 cause long QT syndrome type 5 (LQT5) [MIM:613695].
Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death. [1]
Mutations in KCNE1 are the cause of Jervell and Lange-Nielsen syndrome type 2 (JLNS2)[MIM:612347].
The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. [2]
These mutations inhibit the ability of KCNE1 to form fully functional IKs channels. Mutation that disrupts the N5 sequon of KCNE1 protein hinders its glycosylation,
leading to the formation of channels that are unable of proper cell surface expression due to defect in anterograde trafficking. [3] [4] [5] [6] [7] [8] [9] [10][11]
